Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1055/s-0041-1731411 http://hdl.handle.net/11449/231476 |
Resumo: | Chudley-McCullough syndrome (CMS) is an autosomal recessive condition first described in 1997. The most striking features of this syndrome include sensorineural hearing loss, craniofacial disproportion, and brain abnormalities such as agenesis of the corpus callosum, polymicrogyria, ventriculomegaly, and changes in cerebellar architecture. We describe the case of a 2-year-old patient with CMS confirmed by genetic testing (GPSM2 gene mutation), who presented with global developmental delays and characteristic neuroimaging features including arachnoid cysts, agenesis of the corpus callosum, cerebellar dysplasia, and frontal heterotopia. Early recognition of this rare clinical syndrome may reduce the diagnostic odyssey and ultimately improve the quality of life for affected children. This report will focus on unique clinical and radiographic features of CMS. |
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Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the DiagnosisChudley-McCullough syndromegenetic syndromeneuroradiologyChudley-McCullough syndrome (CMS) is an autosomal recessive condition first described in 1997. The most striking features of this syndrome include sensorineural hearing loss, craniofacial disproportion, and brain abnormalities such as agenesis of the corpus callosum, polymicrogyria, ventriculomegaly, and changes in cerebellar architecture. We describe the case of a 2-year-old patient with CMS confirmed by genetic testing (GPSM2 gene mutation), who presented with global developmental delays and characteristic neuroimaging features including arachnoid cysts, agenesis of the corpus callosum, cerebellar dysplasia, and frontal heterotopia. Early recognition of this rare clinical syndrome may reduce the diagnostic odyssey and ultimately improve the quality of life for affected children. This report will focus on unique clinical and radiographic features of CMS.Neuroradiology Department Beneficência Portuguesa de São Paulo HospitalPontifical Catholic University of Campinas São PauloNeuroradiology Department Antônio Prudente Hospital FortalezaNeurogenetic Department State University of São PauloPediatric Neurologist Department State University of São Paulo-Ribeirão PretoBeneficência Portuguesa de São Paulo HospitalUniversidade Estadual de Campinas (UNICAMP)Antônio Prudente Hospital FortalezaUniversidade de São Paulo (USP)Freitas, Leonardo FurtadoBarros, Gabriel SantaterraBarletta, Enrico AffonsoDe Araújo Coimbra, Pablo PicassoLourenço, Charles MarquesFerreira, Paula Mendes2022-04-29T08:45:35Z2022-04-29T08:45:35Z2021-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1055/s-0041-1731411Journal of Pediatric Neurology.1305-06131304-2580http://hdl.handle.net/11449/23147610.1055/s-0041-17314112-s2.0-85110172647Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengJournal of Pediatric Neurologyinfo:eu-repo/semantics/openAccess2024-09-03T13:46:37Zoai:repositorio.unesp.br:11449/231476Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestrepositoriounesp@unesp.bropendoar:29462024-09-03T13:46:37Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis |
title |
Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis |
spellingShingle |
Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis Freitas, Leonardo Furtado Chudley-McCullough syndrome genetic syndrome neuroradiology |
title_short |
Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis |
title_full |
Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis |
title_fullStr |
Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis |
title_full_unstemmed |
Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis |
title_sort |
Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis |
author |
Freitas, Leonardo Furtado |
author_facet |
Freitas, Leonardo Furtado Barros, Gabriel Santaterra Barletta, Enrico Affonso De Araújo Coimbra, Pablo Picasso Lourenço, Charles Marques Ferreira, Paula Mendes |
author_role |
author |
author2 |
Barros, Gabriel Santaterra Barletta, Enrico Affonso De Araújo Coimbra, Pablo Picasso Lourenço, Charles Marques Ferreira, Paula Mendes |
author2_role |
author author author author author |
dc.contributor.none.fl_str_mv |
Beneficência Portuguesa de São Paulo Hospital Universidade Estadual de Campinas (UNICAMP) Antônio Prudente Hospital Fortaleza Universidade de São Paulo (USP) |
dc.contributor.author.fl_str_mv |
Freitas, Leonardo Furtado Barros, Gabriel Santaterra Barletta, Enrico Affonso De Araújo Coimbra, Pablo Picasso Lourenço, Charles Marques Ferreira, Paula Mendes |
dc.subject.por.fl_str_mv |
Chudley-McCullough syndrome genetic syndrome neuroradiology |
topic |
Chudley-McCullough syndrome genetic syndrome neuroradiology |
description |
Chudley-McCullough syndrome (CMS) is an autosomal recessive condition first described in 1997. The most striking features of this syndrome include sensorineural hearing loss, craniofacial disproportion, and brain abnormalities such as agenesis of the corpus callosum, polymicrogyria, ventriculomegaly, and changes in cerebellar architecture. We describe the case of a 2-year-old patient with CMS confirmed by genetic testing (GPSM2 gene mutation), who presented with global developmental delays and characteristic neuroimaging features including arachnoid cysts, agenesis of the corpus callosum, cerebellar dysplasia, and frontal heterotopia. Early recognition of this rare clinical syndrome may reduce the diagnostic odyssey and ultimately improve the quality of life for affected children. This report will focus on unique clinical and radiographic features of CMS. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-01-01 2022-04-29T08:45:35Z 2022-04-29T08:45:35Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1055/s-0041-1731411 Journal of Pediatric Neurology. 1305-0613 1304-2580 http://hdl.handle.net/11449/231476 10.1055/s-0041-1731411 2-s2.0-85110172647 |
url |
http://dx.doi.org/10.1055/s-0041-1731411 http://hdl.handle.net/11449/231476 |
identifier_str_mv |
Journal of Pediatric Neurology. 1305-0613 1304-2580 10.1055/s-0041-1731411 2-s2.0-85110172647 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Journal of Pediatric Neurology |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
repositoriounesp@unesp.br |
_version_ |
1810021378004353024 |